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rs1060499939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499939(C;C)
Make rs1060499939(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position32137172
GeneSPAST
is asnp
is mentioned by
dbSNPrs1060499939
dbSNP (classic)rs1060499939
ClinGenrs1060499939
ebirs1060499939
HLIrs1060499939
Exacrs1060499939
Gnomadrs1060499939
Varsomers1060499939
LitVarrs1060499939
Maprs1060499939
PheGenIrs1060499939
Biobankrs1060499939
1000 genomesrs1060499939
hgdprs1060499939
ensemblrs1060499939
geneviewrs1060499939
scholarrs1060499939
googlers1060499939
pharmgkbrs1060499939
gwascentralrs1060499939
openSNPrs1060499939
23andMers1060499939
23andMe allrs1060499939
SNPshotrs1060499939
SNPdbers1060499939
MSV3drs1060499939
GWAS Ctlgrs1060499939
Max Magnitude0
ClinVar
Risk rs1060499939(C;C) rs1060499939(T;T)
Alt rs1060499939(C;C) rs1060499939(T;T)
Reference Rs1060499939(G;G)
Significance Probable-Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32362241G>C; NC_000002.11:g.32362241G>T
CLNSRC
CLNACC RCV000476656.1, RCV000468399.1,